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Immunologic reconstitution following hematopoietic stem cell transplantation despite lymph node paucity in NF-κB-inducing kinase deficiency.
Ben Farhat K, Alosaimi MF, Shendi H, Al-Hammadi S, Jones J, Schwarz K, Schulz A, Alawdah LS, Burchett S, Albuhairi S, Whangbo J, Kwatra N, Shamseldin HE, Alkuraya FS, Chou J, Geha RS. Ben Farhat K, et al. Among authors: jones j. J Allergy Clin Immunol. 2019 Mar;143(3):1240-1243.e4. doi: 10.1016/j.jaci.2018.11.003. Epub 2018 Nov 14. J Allergy Clin Immunol. 2019. PMID: 30445060 Free PMC article.
Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant.
Cohen SB, Bainter W, Johnson JL, Lin TY, Wong JCY, Wallace JG, Jones J, Qureshi S, Mir F, Qamar F, Cantley LC, Geha RS, Chou J. Cohen SB, et al. Among authors: jones j. J Allergy Clin Immunol. 2019 Feb;143(2):797-799.e2. doi: 10.1016/j.jaci.2018.10.005. Epub 2018 Oct 16. J Allergy Clin Immunol. 2019. PMID: 30336224 Free PMC article.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
Calzoni E, Platt CD, Keles S, Kuehn HS, Beaussant-Cohen S, Zhang Y, Pazmandi J, Lanzi G, Pala F, Tahiat A, Artac H, Heredia RJ, Dmytrus J, Reisli I, Uygun V, Uygun D, Bingol A, Basaran E, Djenouhat K, Benhalla N, Bendahmane C, Emiroglu M, Kirchhausen T, Pasham M, Jones J, Wallace JG, Zheng L, Boisson B, Porta F, Rosenzweig SD, Su H, Giliani S, Lenardo M, Geha RS, Boztug K, Chou J, Notarangelo LD. Calzoni E, et al. Among authors: jones j. J Allergy Clin Immunol. 2019 Jun;143(6):2317-2321.e12. doi: 10.1016/j.jaci.2019.02.014. Epub 2019 Feb 26. J Allergy Clin Immunol. 2019. PMID: 30822429 Free PMC article.
Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency.
Alosaimi MF, Hoenig M, Jaber F, Platt CD, Jones J, Wallace J, Debatin KM, Schulz A, Jacobsen E, Möller P, Shamseldin HE, Abdulwahab F, Ibrahim N, Alardati H, Almuhizi F, Abosoudah IF, Basha TA, Chou J, Alkuraya FS, Geha RS. Alosaimi MF, et al. Among authors: jones j. J Allergy Clin Immunol. 2019 Aug;144(2):574-583.e5. doi: 10.1016/j.jaci.2019.03.002. Epub 2019 Mar 11. J Allergy Clin Immunol. 2019. PMID: 30872117 Free PMC article. Clinical Trial.
Combined immunodeficiency in a patient with c-Rel deficiency.
Beaussant-Cohen S, Jaber F, Massaad MJ, Weeks S, Jones J, Alosaimi MF, Wallace J, Al-Herz W, Geha RS, Chou J. Beaussant-Cohen S, et al. Among authors: jones j. J Allergy Clin Immunol. 2019 Aug;144(2):606-608.e4. doi: 10.1016/j.jaci.2019.05.003. Epub 2019 May 16. J Allergy Clin Immunol. 2019. PMID: 31103457 Free PMC article.
Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.
Chou J, Alazami AM, Jaber F, Hoyos-Bachiloglu R, Jones J, Weeks S, Alosaimi MF, Bainter W, Cangemi B, Badran YR, Mohammed R, Alroqi F, Almutairi A, Al-Onazi N, AlAjaji S, Al-Saud B, Arnaout R, Elkins M, Devana S, Imperial J, Li B, Drexhage L, Abdel Rahman AM, Jacob M, Haddad H, Hanna-Wakim R, Dbaibo G, Massaad MJ, Dasouki M, Mikhael R, Baz Z, Geha RS, Al-Mousa H. Chou J, et al. Among authors: jones j. J Allergy Clin Immunol. 2020 Jul;146(1):192-202. doi: 10.1016/j.jaci.2019.12.004. Epub 2019 Dec 17. J Allergy Clin Immunol. 2020. PMID: 31862378 Clinical Trial.
Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex.
Bainter W, Platt CD, Park SY, Stafstrom K, Wallace JG, Peters ZT, Massaad MJ, Becuwe M, Salinas SA, Jones J, Beaussant-Cohen S, Jaber F, Yang JS, Walther TC, Orange JS, Rao C, Rakoff-Nahoum S, Tsokos M, Naseem SUR, Al-Tamemi S, Chou J, Hsu VW, Geha RS. Bainter W, et al. Among authors: jones j. J Clin Invest. 2021 Feb 1;131(3):e140494. doi: 10.1172/JCI140494. J Clin Invest. 2021. PMID: 33529166 Free PMC article.
Rethinking Immunological Risk: A Retrospective Cohort Study of Severe SARS-Cov-2 Infections in Individuals With Congenital Immunodeficiencies.
Nguyen AA, Habiballah SB, LaBere B, Day-Lewis M, Elkins M, Al-Musa A, Chu A, Jones J, Fried AJ, McDonald D, Hoytema van Konijnenburg DP, Rockowitz S, Sliz P, Oettgen HC, Schneider LC, MacGinnitie A, Bartnikas LM, Platt CD, Ohsumi TK, Chou J. Nguyen AA, et al. Among authors: jones j. J Allergy Clin Immunol Pract. 2023 Nov;11(11):3391-3399.e3. doi: 10.1016/j.jaip.2023.07.042. Epub 2023 Aug 5. J Allergy Clin Immunol Pract. 2023. PMID: 37544429
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